Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

Y Athanasiou, K Voskarides, DP Gale… - Clinical Journal of the …, 2011 - journals.lww.com
Results Eighty-two patients (90%) exhibited microscopic hematuria; 51 (62%), exhibited only
microscopic hematuria, whereas the remaining 31 additionally had proteinuria (38%); 28 …

Regulating complement in the kidney: insights from CFHR5 nephropathy

DP Gale, MC Pickering - Disease models & mechanisms, 2011 - journals.biologists.com
Complement factor H related protein 5 (CFHR5) nephropathy is a monogenic disorder of
complement regulation that is endemic in Cyprus. The disease is characterised by …

[HTML][HTML] Current concepts in C3 glomerulopathy

S Thomas, D Ranganathan, L Francis… - Indian journal of …, 2014 - journals.lww.com
Complement component 3 glomerulopathy (C3G) is a recently defined entity comprising of
dense deposit disease and C3 glomerulonephritis. The key histological feature is the …

Genetic polymorphism of C3 and Bf in IgA nephropathy

M Rambausek, AWL Van den Wall Bake… - Nephrology Dialysis …, 1987 - academic.oup.com
C3 and Bf alleles were examined in the general population, in 67 patients with biopsy-
confirmed mesangial IgA nephropathy and 81 patients with other types of …

Renal genetics in Australia: kidney medicine in the genomic age

K Jayasinghe, C Quinlan, Z Stark, C Patel… - …, 2019 - Wiley Online Library
There have been few new therapies for patients with chronic kidney disease in the last
decade. However, the management of patients affected by genetic kidney disease is rapidly …

Familial hematuria: A review

P Plevová, J Gut, J Janda - Medicina, 2017 - mdpi.com
The most frequent cause of familial glomerular hematuria is thin basement membrane
nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less …

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy

K Rana, YY Wang, H Powell, C Jones, D McCredie… - Pediatric …, 2005 - Springer
This study examined how often children with persistent familial hematuria were from families
where hematuria segregated with the known genetic locus for the condition known as …

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II …

MA Abrera-Abeleda, C Nishimura, JLH Smith… - Journal of medical …, 2006 - jmg.bmj.com
Introduction: Membranoproliferative glomerulonephritis type II or dense deposit disease
(MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage renal disease …

Carriers of autosomal recessive Alport syndrome with thin basement membrane nephropathy presenting as focal segmental glomerulosclerosis in later life

C Deltas, I Savva, K Voskarides, L Papazachariou… - Nephron, 2015 - karger.com
Abstract Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic
hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) …

Translational Mini‐Review Series on Complement Factor H: Therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic …

M Noris, G Remuzzi - Clinical & Experimental Immunology, 2008 - Wiley Online Library
Genetic and acquired abnormalities in complement factor H (CFH) have been associated
with two different human renal diseases: haemolytic uraemic syndrome and membrano …